Week 5.1 Duchenne Muscular Dystrophy Flashcards
DMD is the most common…
x-linked recessive disorder
DMD is missing the
dystrophin protein
the dystrophin protein affects
skeletal and cardiac muscle
leads to myofibril damage
muscle hypoxia and fibrosis
DMD is typically diagnosed by
age 5
how is a medical diagnosis made
- by taking a history and physical exam
- ECG/echo
- elevated levels of creatine kinase (CK) in the blood (this is the enzyme that leaks out of damaged muscles)
- DNA analysis
- muscle biopsy
what are the sign and symptoms and impairments of DMD
- progressive weakness (neck, abs, inter scapular, hip extensors)
- enlarged calves (psuedohypertrophy)
- lordosis (APT and hip extensor weak)
- wide based gait and toe walking
- clumsiness
- Gower’s sign
- 30-40% have cognitive behavioral disorders
- scapular winging
- knee hyperextension and lack DF
Gower’s sign
rising from the floor using the arms as well
what is called pseudo hypertrophy
muscle fibers are replaced with fat and connective tissue
what is the progression of DMD
3-5 diagnosed
6-8 stair climbing
8-10 decrease vital capacity and falls
12: can’t walk
what is the lifespan of DMD
from late teens to early 20s/30s. health from cardiac or pulmonary muscle weakness.
what are the 4 medical interventions
genetic therapy research
steroid therapy
surgical management
BiPAP
what can steroid therapy do
prolong walking by 3 years, improve pulmonary function. but can cause weight gain, cataracts or osteoporosis
what is the surgical management for DMD
contractures and scoliosis
what are some activity and participation limitations
gait speed, running, rising from the floor,stairs, ADLs, keeping up with peers, family activities, school events, sporting and social events
Outcome measures and predictors for DMD
6MWT,
PEDI
school functional assessment (SFA)
predictors of loss of ambulation within 2 years
ten meter run/walk time >9sec
inability to rise from the floor
PT role: (6 things)
- family centered care (education and support services)
- facilitate use of AD
- manage environmental barriers
- advocacy (empower them)
- Part of management team
- PT interventions
PT goals:
- independence with ADLs
- independence with age appropriate activities and home and school
- promote participation with family, friends and school
- education ( patient, family, school…)
TF: focus may not be on improving specific impairments
true, it may focus on QOL or participation.
Preschool age management DMD
- family education,
- family support for peer interaction
- social aspects
- baseline strength and ROM
- early discussion of prognosis
- maintain flexibility
- anticipatory guidance for night splints
Early school age management
- limitations for apparent here
- education on activity level to avoid fatigue
- AVOID ECCENTRIC strengthening and immobilization
- activities for conditioning (bike, swim)
- ROM management, stretching, night splits (GN)
- Manage fall risk
- Assess assisted mobility
- support with school participation, adaptive PE and environment
Adolescent management
- significant progression of weakness and contractures
- power mobility
- home and vehicle modifications
- equipment for ADLs, standing, transfers
- strategies for mobility, participation, self care
- UE function and contracture management
- pulmonary function
transition to adulthood management
- longevity may reach 3rd or 4th decade
- greater reliance on AD
- environmental control devices
- assist with ADLs, transfers
- education and per-vocational training
- breathing exercises, intervention and positioning
- Assist patient and family with decision on ventilation
- end of life support
what is Becker MD
more slowly progressive, like DMD, just slower.
